Mitochondrial disease
Gene: RRM2B
Single family reported with this phenotype, likely represents a continuum for a mitochondrial disorder rather than a separate entity.Created: 3 Mar 2022, 6:43 a.m. | Last Modified: 3 Mar 2022, 6:43 a.m.
Panel Version: 0.11115
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315
Publications
Genereviews:
>50 families reportedCreated: 21 Feb 2022, 3:52 a.m. | Last Modified: 21 Feb 2022, 3:52 a.m.
Panel Version: 0.11011
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: RRM2B was added gene: RRM2B was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: RRM2B was set to Unknown